Correction to: Journal of Human Genetics (2014) 59, 223–228. doi:10.1038/jhg.2014.5; published online 13 February 2014. The authors of the above paper noticed errors in Table 2 on publication that are shown below: 1. Change patient #22’s genotype from L444P (c.1448T>C)/L444P (c.1448T>C) to L444P (c.